Cargando…

Identification and characterization of a new variation in DPM2 gene in two Chinese siblings with mild intellectual impairment

Introduction: Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of metabolic disorders caused by abnormal protein or lpid glycosylation. DPM2 is one subunit of a heterotrimeric complex for dolichol-phosphatemannose synthase (DPMS), a key enzyme in glycosylation, and...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zhao, Peiwei, Hu, Yanqiu, Hu, Juan, Li, Cheng, Huang, Yufeng, Zhang, Lei, Luo, Sukun, Zhu, Hongmin, Jiang, Jun, He, Xuelian
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10154465/ https://www.ncbi.nlm.nih.gov/pubmed/37152991 http://dx.doi.org/10.3389/fgene.2023.930692

Ejemplares similares

A novel variant in the HX repeat motif of ATN1 in a Chinese patient with CHEDDA syndrome and literature review
por: Luo, Sukun, et al.
Publicado: (2022)

Functional Analysis of a Novel CLN5 Mutation Identified in a Patient With Neuronal Ceroid Lipofuscinosis
por: Luo, Sukun, et al.
Publicado: (2020)

Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy
por: Zhang, Lei, et al.
Publicado: (2022)

Corrigendum: Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy
por: Zhang, Lei, et al.
Publicado: (2022)

Genetic analysis and prenatal diagnosis in a Chinese with growth retardation, abnormal liver function, and microcephaly
por: Zhao, Peiwei, et al.
Publicado: (2021)

Case Report: DPM1-CDG: Novel Variant with Severe Phenotype and Literature Review
por: Lausmann, Hanna, et al.
Publicado: (2022)

Identification and Characterization of a Germline Mutation in CARD11 From a Chinese Case of B Cell Expansion With NF-κB and T Cell Anergy
por: Zhao, Peiwei, et al.
Publicado: (2021)

DPM evolution: a disk operations management engine for DPM
por: Manzi, A, et al.
Publicado: (2017)

Novel Compound Heterozygous Mutations in the TRAPPC9 Gene in Two Siblings With Autism and Intellectual Disability
por: Hnoonual, Areerat, et al.
Publicado: (2019)

Infantile‐onset CMT2D/dSMA‐V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene
por: Huang, Yufeng, et al.
Publicado: (2021)

A 9‐month‐old Chinese patient with Gabriele‐de Vries syndrome due to novel germline mutation in the YY1 gene
por: Tan, Li, et al.
Publicado: (2020)

Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype
por: Chikhaoui, Asma, et al.
Publicado: (2019)

DPM: Future Proof Storage
por: Alvarez, Alejandro, et al.
Publicado: (2012)

DPM: Future Proof Storage
por: Alvarez, Alejandro, et al.
Publicado: (2012)

Case report: Identification of a recurrent pathogenic DHDDS mutation in Chinese family with epilepsy, intellectual disability and myoclonus
por: Dong, Yi, et al.
Publicado: (2023)

Three de novo variants in KMT2A (MLL) identified by whole exome sequencing in patients with Wiedemann–Steiner syndrome
por: Luo, Sukun, et al.
Publicado: (2021)

DPM - efficient storage in diverse environments
por: Hellmich, Martin, et al.
Publicado: (2014)

Raghu Gaind, FRCP, FRCPsych, DPM
por: Hirsch, Steven
Publicado: (2023)

Altered DNA methylome profiles of blood leukocytes in Chinese patients with mild cognitive impairment and Alzheimer’s disease
por: Wu, Shaochang, et al.
Publicado: (2023)

A De Novo Mutation in DYRK1A Causes Syndromic Intellectual Disability: A Chinese Case Report
por: Qiao, Fengchang, et al.
Publicado: (2019)

Analysis of the Progeny of Sibling Matings Reveals Regulatory Variation Impacting the Transcriptome of Immune Cells in Commercial Chickens
por: Freem, Lucy, et al.
Publicado: (2019)

Direct data access protocols benchmarking on DPM
por: Furano, Fabrizio, et al.
Publicado: (2015)

Testing performance of Standards-based protocols in DPM
por: Skipsey, Samuel, et al.
Publicado: (2012)

Web enabled data management with DPM & LFC
por: Alvarez Ayllon, A, et al.
Publicado: (2012)

DPM PERFORMANCE TESTING USING RASPBERRY PIS
por: Regala, M
Publicado: (2013)

A milestone for DPM (Disk Pool Manager)
por: Furano, Fabrizio, et al.
Publicado: (2019)

Emanuel (Gus) Moran FRCP FRCPsych, DPM
por: Russell, Gerald
Publicado: (2018)

DPM as a radiation transport engine for PRIMO
por: Rodriguez, Miguel, et al.
Publicado: (2018)

John Birtchnell, MD, DPM, FRCPsych, FBPsS
por: Birtchnell, Sandra
Publicado: (2023)

A Tiered Genetic Screening Strategy for the Molecular Diagnosis of Intellectual Disability in Chinese Patients
por: Dai, Limeng, et al.
Publicado: (2021)

Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability
por: Sanchis-Juan, Alba, et al.
Publicado: (2019)

A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability
por: Charif, Majida, et al.
Publicado: (2015)

SNP Variation of RELN Gene and Schizophrenia in a Chinese Population: A Hospital-Based Case–Control Study
por: Luo, Xia, et al.
Publicado: (2019)

Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family
por: Lin, Shaobin, et al.
Publicado: (2021)

Peter Sykes MB, ChB, FRCPsych, DPM
por: Savin, Emma
Publicado: (2018)

Harold Bourne, MB BS, DPM, FRANZCP, FRCPsych
por: Barraclough, Brian
Publicado: (2019)

Dora Black, MB, DPM, FRCPsych, FRCPCH (Hon.)
por: Graham, Philip
Publicado: (2022)

tRNA methyltransferase 10 homologue A (TRMT10A) mutation in a Chinese patient with diabetes, insulin resistance, intellectual deficiency and microcephaly
por: Lin, Hu, et al.
Publicado: (2020)

Next-Generation Sequencing Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings With Late-Infantile Neuronal Ceroid Lipofuscinosis
por: Ren, Xiao-Tun, et al.
Publicado: (2019)

Novel Compound Heterozygous Mutations in TTI2 Cause Syndromic Intellectual Disability in a Chinese Family
por: Wang, Rongrong, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_7plk6d71s4hfj3aprvf18r9iu8